Dataset Information
CTSK variant implicated in suspected pyknodysostosis in a domestic cat.
Ontology highlight
ABSTRACT: Case summary
A 9-month-old entire male domestic longhair cat presented with a history of pathological fractures, chronic musculoskeletal pain and poor growth. Multiple facial and skeletal abnormalities were identified on physical examination and advanced imaging (CT and radiographs). A variant in CTSK was identified in the affected cat following whole-exome sequencing (WES). The cat was managed symptomatically with diet, environmental modifications and analgesia.Relevance and novel information
This is the first report of a cat with a similar clinical presentation and genetic variant to the hereditary human genetic disorder pyknodysostosis. In this case, WES was performed, which often facilitates the diagnosis of various hereditary disorders (ie, a conceptual framework for practicing feline genomic medicine). Despite the severe skeletal and appendicular abnormalities described, the cat was alive more than 2 years after its initial presentation.
SUBMITTER: Lyraki M
PROVIDER: S-EPMC9749044 | biostudies-literature | 2022 Jul-Dec
REPOSITORIES: biostudies-literature
Publications
<i>CTSK</i> variant implicated in suspected pyknodysostosis in a domestic cat.
JFMS open reports 20220701 2
<h4>Case summary</h4>A 9-month-old entire male domestic longhair cat presented with a history of pathological fractures, chronic musculoskeletal pain and poor growth. Multiple facial and skeletal abnormalities were identified on physical examination and advanced imaging (CT and radiographs). A variant in <i>CTSK</i> was identified in the affected cat following whole-exome sequencing (WES). The cat was managed symptomatically with diet, environmental modifications and analgesia.<h4>Relevance and ...[more]
